以新生儿足跟血滤纸干血斑为标本的地中海贫血群体筛查研究  

Population screening of thalassemia using neonatal heel dried blood spot specimens on filter paper

作　　者：涂志华[1] 林尧[2] 周知[1] 黄慈丹 陈新[4] 吴学礼[5] 林文[3] 许海珠[3] 王洁[3] 

机构地区：[1]海南省妇幼保健院生殖医学中心,海口570206 [2]海口市妇幼保健院保健部 [3]海南省妇幼保健院检验中心 [4]海口市妇幼保健院党委 [5]海口市妇幼保健院检验科

出　　处：《中华检验医学杂志》2018年第2期132-135,共4页Chinese Journal of Laboratory Medicine

基　　金：海口市重点科技计划项目（海科工信立[2014]66号）;海南省自然科学基金（814361）;海南省医学科研课题（琼卫2013资助-054号）;海南省医药卫生科研项目（14A200004）;海南省科技合作专项资金（SQ2015GJXM0041）

摘　　要：目的研究海口新生儿地中海贫血基因携带率、基因型构成，探讨利用新生儿足跟血滤纸干血斑为标本进行新生儿地贫群体筛查的方法。方法实证研究的方式，2016年1至12月，采用机械抽样法，每日抽取25%～50%海口市30家医院出生的海口市户籍新生儿足跟血滤纸干血斑标本，总计6 864份，行血红蛋白电泳，电泳实验结果异常标本，召回新生儿抽血，再行地贫基因检测，汇总数据分析滤纸干血斑标本行新生儿地贫群体筛查的可行性。结果6 864份新生儿滤纸干血斑标本中，电泳初筛阳性604份，阳性率8.80%，电泳阳性标本确诊携带地贫基因343份，携带率5%（343/6 864），其中α－地贫基因281份，占81.92%（281/343），β－地贫基因57份，占16.62%（57/343），α－合并β－地贫基因5份，占1.46%（5/343）。α－地贫病例中，缺失型占89.68%（252/281），以－－SEA /αα为主；非缺失型占4.98%（14/281），以αQSα/αα为主；缺失型杂合非缺失型占α－地贫病例5.34%（15/281），以－α3.7 /αWSα为主。β－地贫病例中，检出9种基因型，以CD41－42/N为主，占β－地贫基因携带病例的61.40%（35/57）。α－地贫病例中，缺失型占89.68%（252/281），以－－SEA /αα为主；非缺失型占4.98%（14/281），以αQSα/αα为主；缺失型杂合非缺失型占α－地贫病例5.34%（15/281），以－α3.7 /αWSα为主。β－地贫病例中，检出9种基因型，以CD41－42/N为主，占β－地贫基因携带病例的61.40%（35/57）。结论海口市新生儿地贫基因携带率高，基因型分布有地域特点，以α－地贫为主。新生儿足跟血滤纸干血斑为标本行地贫群筛的方法可大力推广。ObjectiveTo investigate the neonatal genetic carrier rate and genotype composition of thalassemia in Haikou city, and to evaluate the application of using dried blood spot specimens of neonates for population screening of thalassemia.MethodsFrom January 2016 to December 2016, 25% to 50% of all dried blood spot specimens of registered neonates were collected randomly by mechanical samping method in 30 hospitals of Haikou city everyday.Total of 6 864 samples were primarily analyzed by hemoglobin electrophoresis, and those with positive results were secondarily recalled for venous blood collection and subsequent genotyping tests.Feasibility of using neonatal dried blood spot specimens for population screening of thalassemia was retrospectively analyzed.ResultsA total of 6 864 neonatal dried blood spot specimens were analyzed.Out of 604 positive samples primarily screened by Hb electrophoresis, the positive rate was 8.80%, 343 samples carried thalassemia gene mutations secondarily confirmed by genotyping test, the carrying rate was 5%（343/6 864）, among which 81.92 % （281/343） were α-thalassemia, 16.62% （57/343） were β-thalassemia and 1.46% （5/343） were both α- and β-thalassemia.In those α-thalassemia, the deleted α-gene types occupied 89.68%（252/281）, the major genotype was --SEA /αα; the mutated α-gene types occupied 4.98%（14/281）, the major genotype was αQSα/αα. In those β-thalassemia, there were 9 genotypes, the major genotype was CD41-42/N, occupying 61.40%（35/57）.ConclusionsThe neonates have a relatively high carrying rate of thalassemia gene mutations in Haikou city, the genotype composition has geographical characteristics, and the major type is α-thalassemia.The method of using heel dried blood spot specimens on filter paper to screen thalassemia among neonates is advantageous and worthy of advocation.

关 键 词：新生儿 干血斑 地中海贫血 筛查 基因型 

分 类 号：R722.1[医药卫生—儿科]